Disorders of Purine and Pyrimidine Metabolism

Abstract

Progress during the past year in the field of aberrations of purine metabolism has extended our knowledge of the metabolic consequences of a deficiency of specific enzymes and thereby allowed formulation of better understanding of possible mechanisms involved in producing the clinical diseases. Additional patients with recently described enzyme deficiencies have been identified and have served to define more precisely the range of clinical presentations to be expected in these disorders.

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